A novel approach to rapid determination of βS-globin haplotypes: Sequencing of the Aγ-IVS-II region

Amy E. Vinson, Aisha Walker, Dedrey Elam, Michele Glendenning, Ferdane Kutlar, Betsy Clair, Jeanette Harbin, Abdullah Kutlar

Research output: Contribution to journalArticle

Abstract

β-Globin gene cluster haplotypes were originally determined by restriction endonuclease mapping with Southern blots of polymorphic sites around the gene cluster. Over the years, haplotyping has been found to be useful, not only in population genetics but also in predicting the severity of hemoglobinopathies such as sickle cell disease. The sickle mutation occurs on five distinct haplotypes. The hitherto used methods are cumbersome and time-consuming, making haplotype determination a tedious procedure. We report our experience with a novel, rapid approach to haplotyping based on sequence polymorphisms in the Aγ-IVS-II region. We provide an algorithm that allows rapid assignment of the four African haplotypes carrying the sickle mutation.

Original languageEnglish (US)
Pages (from-to)317-323
Number of pages7
JournalHemoglobin
Volume28
Issue number4
DOIs
Publication statusPublished - Dec 13 2004

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Keywords

  • Haplotype
  • Sickle cell disease
  • β Chromosome
  • γ-IVM-II region

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

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